DRG1

Chr 22q12.2

developmentally regulated GTP binding protein 1

MANE:: ENST00000331457.9

OMIM: 603952 ↗NCBI: 4733 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DRG1 · Q9Y295

v62025-08-01

Predicted Aligned Error matrix for DRG1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.9/ 100

Confident

367 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)38%
Low(50–70)7%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Tan-Almurshedi syndrome
0.67
hypothyroidism
0.29
Flexion contracture
0.26
neurodevelopmental disorder
0.12
breast carcinoma
0.08
breast cancer
0.08
melanoma
0.07
Dystrophic epidermolysis bullosa
0.05
epidermolysis bullosa simplex 2A, generalized severe
0.05
Epidermolysis bullosa simplex, Ogna type
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein NDRG1

Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regulates microtubule dynamics and maintains euploidy